Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_017419.3
p.R227I
c.680G>T
NM_017419.3
p.R34*
c.100C>T
NM_017419.3
p.R61C
c.181C>T
NM_017419.3
p.R284C
c.850C>T
NM_017419.3
p.E440Q
c.1318G>C
NM_017419.3
p.E440G
c.1319A>G
NM_017419.3
p.M1K
c.2T>A
NM_017419.3
p.K20*
c.58A>T
NM_017419.3
p.C22S
c.64T>A
NM_017419.3
p.C22S
c.65G>C
NM_017419.3
p.V54fs
c.160_161fs
NM_017419.3
p.Y87N
c.259T>A